Background. Eating behaviour disorder (EBD) induced by valproic acid (VPA) is one of the components of the pathogenesis of a serious complication of therapy with VPA and its salts such as VPA-induced metabolic syndrome (MetS). About 20% of patients receiving VPA have weight gain, which is also a consequence of altered eating behaviour in such patients. Substances such as neuropeptide Y (NPY), leptin, orexin and ghrelin are involved in the regulation of eating behaviour. NPY has received special attention in recent years because it is one of the most potent brain orexigenic peptides and its expression level directly affects the quantity and quality of food intake. NPY overexpression is associated with EBD, food preferences, obesity, and MetS.Objective: to review preclinical and clinical studies of NPY role as a potential sensitive and specific serum biomarker of VPA-EBD, secondary weight gain and VPA-MetS development in children and adults with epilepsy.Material and methods. We analyzed Russian and foreign publications submitted to eLibrary, PubMed/MEDLINE, Scopus, and Google Scholar databases between 2014 and 2024. The full-text articles in Russian and English (original studies, systematic reviews, meta-analyses, Cochrane reviews, and clinical cases) were analyzed. After the selection procedure, 53 out of 1105 publications retrieved by query keywords were included in the analysis.Results. VPA-EDB refers to multifactorial diseases, requiring to take into account the additive contribution of external (food education, eating habits of the patient and family members) and internal (key hormones and neuropeptides regulating appetite and food preferences, the dose and duration of VPA intake, the metabolic rate of VPA) factors while assessing a risk of its development. NPY-associated VPA-EDB affects dietary preferences in favor of high-calorie food and beverages, increases the frequency of meals, the risks of insulin resistance, hyperglycemia as one of the major domains in MetS pathogenesis.Conclusion. VPA-EBD requires timely diagnosis, as it can cause VPA-MetS. NPY is an important biomarker of VPA-EBD, because recent studies have convincingly demonstrated that this neuropeptide is involved in the regulation of eating behavior in patients with epilepsy.

A differential diagnosis of epileptic and non-epileptic paroxysms is particularly difficult to conduct during a neurologist consultation. Narcolepsy is a chronic disease that causes excessive daytime sleepiness. Some narcolepsy symptoms, especially cataplexy, can be mistakenly interpreted as epileptic seizures. The clinical case demonstrates an importance for interdisciplinary approach to differential diagnosis of epileptic seizures. Clinical markers of typical and atypical cataplexy manifestations are presented.

Currently, the problem of effective therapy for drug-resistant epilepsy remains vastly relevant. The severity of drug-resistant epilepsy, remarkable negative social sequelae and sudden death in epilepsy pose a heavy burden on healthcare system. Although many innovative antiepileptic drugs have been developed in recent decades, surgical approach remains the only effective way to treat drug-resistant epilepsy which is coupled to significant health risks and does not guarantee freedom from seizures. The stumbling block in managing this pathology is the lack of knowledge on pathogenetic mechanisms, leaving a significant proportion of patients without quality medical care. There are different viewpoints on developing drug resistance in epilepsy, which are characterized by multilayered and overlapping molecular disease bases. The review presents the analysis of the existing hypotheses regarding the mechanisms underlying drug resistance development in epilepsy.

Aim. To describe a clinical case of differential diagnostics of motor phenomena during sleep. Materials and methods. Patient B., 37 years old. Visit to a somnologist at the University Clinic. Complaints were mainly made by the patient’s wife, since the patient himself does not remember these episodes. According to the wife, sudden sweeping movements of the arms and legs, incoherent speech are noted during sleep, then the patient gets up, can grab his hands, behaves aggressively, shifts things. These complaints have been noted for more than 10 years, with a gradual worsening of symptoms. A neurologist at the place of residence suggested a possible epileptic nature of these episodes,but no further examination was carried out. Results. From a semiological point of view, motor phenomena during sleep can imitate epileptic seizures, parasomnias, rapid eye movement behavior disorders, and normal sleep motor phenomena such as fragmentary sleep myoclonus, periodic limb movements, bruxism, etc. A differential diagnostic search is provided, a comparative characteristic of motor phenomena during sleep and wakefulness is given, as well as a scale of frontal epilepsy and parasomnia, which can help the doctor in making the correct diagnosis. Conclusion. Conducting a comprehensive examination of the patient and clarifying the clinical diagnosis made it possible to choose the correct management tactics, avoid unjustified prescription of antiepileptic drugs, and reduce emotional stress in the family due to the ambiguity of the manifestations of night motor phenomena. The established clinical diagnosis allows monitoring the patient in terms of the possible debut of a neurodegenerative disease.

In pediatric practice, epilepsy holds one of the leading places among neurological pathologies. Along with seizures, a child's intellectual impairment lowering quality of life plays a crucial role in social disintegration. Cognitive impairments occuring in idiopathic generalized epilepsies (IGE) and self-limited epilepsy with centrotemporal spikes (SeLECTS) considered benign have been widely investigated. However, available data suggest that such disorders result in multiple persistent alterations in the cognitive sphere. In this case, features of the epilepsy etiopathogenesis account for disease early onset and profoundly remodeled structures involved in the implementation of cognitive functions. Current review is aimed to summarizing data regarding developmental mechanisms and range of cognitive impairment in IGE and SeLECTS.

Background. Сognitive impairment is one of the major epilepsy-related comorbidities. Upon long-term disease course, a decline in cognitive functions occurs in about 70–80% of cases. Juvenile myoclonic epilepsy (JME) is one of the most common forms of epilepsy (about 9.3%). Compared with other forms of idiopathic generalized epilepsy, JME is featured with high risk of seizures along with lowered patient compliance to treatment as well as a danger of developing drug resistance that may be a cause of cognitive disorder.Objective: to review research publications on cognitive impairment in JME, discuss its putative causes, describe neuropsychological profile for JME patients.Material and methods. The search was carried out in eLibrary, PubMed/MEDLINE, and Google Scholar databases using keywords and their combinations: “cognitive impairment”, “cognitive disorder”, “cognitive functions”, “neuropsychology”, “epilepsy”, “juvenile myoclonic epilepsy”, “JME”, “idiopathic generalized epilepsy”, “antiepileptic drugs”. We analyzed the articles published over the past 5 years and some earlier works of significant scientific interest. All articles were published in English or Russian languages.Results. A total of 895 articles were found in databases. Comprehensive screening, evaluation of full-text articles eligibility in accordance with the criteria for selecting and deleting duplicates allowed to include 3 scientific publications in Russian and 67 scientific publications in English in the literature review. The main causes of cognitive impairment in JME patients were analyzed followed by describing relevant neuropsychological profile. Diagnostic tools and current opportunities for correction of cognitive disfunctions were considered as well.Conclusion. The underlying causes of cognitive impairment in JME patients are multifactorial in nature and require further research. However, in this patient cohort prominent obstacles remain in identifying and timely correcting such disorders. Approving uniform diagnostic and therapeutic standards, developing rehabilitation methods for cognitive impairment in epilepsy will help improve the quality of life in JME patients.

Background. The association between the protocadherin-19 ( PCDH19 ) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females. Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients. Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed. Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients. Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.

Due to elevated frequency of autoimmune epilepsy cases, the issues related to reliable clinical and laboratory-instrumental criteria for establishing the disease etiology become relevant. Differentiated assessment of autoantibody markers allows to choose the most effective tactics for managing patients. The article presents the criteria for assessing autoimmune epilepsy as well as diagnostic scales, features related to clinical picture and response to therapy based on the type of synthesized autoantibodies. Therapeutic lines and targets for immunomodulatory and antiepileptic drugs used in autoimmune epilepsy are detailed, the knowledge of which along with clinical and laboratory data collectively allow to determine effective and safe therapy algorithm.

Objective of the Review: To demonstrate the complexity in diagnosing postural orthostatic tachycardia syndrome. Key Points. Clinical manifestations of postural orthostatic tachycardia syndrome vary and can have a clinical phenotype that is similar to a number of neurological and somatic conditions. Conclusion. The case studies presented demonstrate the significance of diagnostic manoeuvres in differentiating this syndrome from other types of impairment of consciousness. An active test in standing position which is easy to conduct can be a diagnostic prompt, if it is verified with a history of typical chronic orthostatic intolerability, postural heart acceleration, and a variety of accompanying complaints. Keywords: postural orthostatic tachycardia syndrome, loss of consciousness, diagnostics.

Objective : to analyze the course of epilepsy in women after withdrawal of valproic acid (VA) during pregnancy. Material and methods . The study was conducted in the Center of paroxysmal conditions of Vitebsk Regional Clinical Diagnostic Center. The study included 58 women with epilepsy who gave birth in 2018–2020; a prospective analysis was also done using the Russian Register of Pregnancy and Epilepsy (RRPE) data. The study group included 112 women with epilepsy who were taking VA at the time of conception. In 16.1% of cases (n=18 out of 112) VA was discontinued in the first trimester (withdrawal group), in 83.9% of cases (n=94) VA therapy was continued. We analyzed the frequency of epileptic seizures depending on the use of VA during pregnancy for each trimester and for the entire pregnancy as a whole. Results . According to the Vitebsk Regional Clinical Diagnostic Center, 32 out of 58 (55.2%) patients took VA, all of them had generalized tonicclonic seizures in the structure of epileptic seizures. Seven of 32 patients (21.8%) received VA at a dose of <700 mg/day; 10 (31.3%) – 700–1000 mg/day, 15 (46.9%) – 1000–1500 mg/day. VA was canceled in two cases, in one of them a tonic-clonic seizure developed. According to the RRPE data, in 9 out of 65 (13.8%) cases VA was discontinued in the first trimester (withdrawal group), in 55 out of 65 (84.6%) cases the therapy with VA was continued, and in one case - the drug was changed. The number of women with epilepsy taking VA during pregnancy has decreased from 38.9% (275 out of 707) in 2017 to 24.9% (112 out of 450) by January 2023. According to the RRPE, the majority of patients continued VA therapy during gestation if pregnancy occurred while taking this antiepileptic drug. A high fraction of prescribing VA in patients with focal epilepsy was registered – 58.9% (66 out of 112) with continuation of VA therapy during pregnancy in 61.7% of cases. Among patients with generalized form of epilepsy, VA drugs were taken by 36.6% (41 out of 112). The majority of patients (35.1%; 33 of 94) continued to take VA throughout the entire gestation. About half of the patients took VA at a dose of >700 mg/day in the first trimester and throughout gestation. There were no statistically significant differences in the frequency of tonic-clonic and other types of epileptic seizures during pregnancy in patients who canceled VA and continued therapy, according to RRPE. Conclusion . Further prospective and controlled studies with large sample sizes are needed to determine the most effective and safe strategy for VA withdrawal.

Investigation of autoimmune epilepsy (AIE) has been attracting increasingly more attention due to discovery of neuronal antibodies and improved understanding of the mechanisms related to such immune-mediated syndromes. The review is aimed at autoimmune epilepsy taking into account up-to-date advances in exploring its pathophysiology. Definitions related to this issue are outlined, and pathogenetic mechanisms, features of antineuronal antibodies as well as AIE clinical picture based on type of autoantibodies, are considered. The necessity of regular monitoring patients with AIE is indicated, preferably by an epileptologist together with a neuroimmunologist. With prolonged follow-up, chronic pharmacoresistant epilepsy persists in some patients, despite aggressive immunotherapy and antiepileptic drugs. With a deeper understanding of the mechanisms of antibody-mediated and autoantigen-specific T-cell-mediated AIE syndromes, the use of antiepileptic drugs and immunotherapy can be further optimized.

The question of the involvement of impairments to the metabolism of melatonin and its precursors (tryptophan and serotonin) in the development of psychoneurological disorders has recently been under active discussion. The melatoninergic and serotoninergic systems play an important role in the pathogenesis of these disorders, the genetic predisposition to impairments at different stages in the metabolism of these neurotransmitters (from synthesis to release) having particular importance. The present review addresses the first stage in melatonin metabolism – its synthesis, i.e., the first of a cascade of reactions which is key and limiting in the formation of its precursor serotonin. Two types of tryptophan hydroxylase, the enzyme catalyzing this process, have been identified in humans. These enzymes are encoded by the genes TPH1 and TPH2, respectively. Results from associative molecular-genetic studies in recent years have demonstrated a link between carriership of a series of single-nucleotide polymorphisms (SNP) in the TPH1 and TPH2 genes with the risk of developing schizophrenia, bipolar affective disorder, anxious-depressive disorders, obsessive compulsive disorders, attention deficit hyperactivity disorder, and epilepsy. However, results obtained from some studies are contradictory, which can be explained by differences in study design, small cohorts in most studies, and different social-geographic characteristics (race, ethnicity, nationality). Consideration of genetically determined impairments in the first stage of melatonin synthesis in real clinical practice may help find novel approaches to pathogenetic and disease-modifying therapies, which is consistent with the current state of personalized medicine.

Background. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME, aggravated epilepsy-related heredity is often detected. However, specific genetic variants of JME predisposition remain inconclusive. The use of contemporary methods of genetic analysis, particularly whole-exome and whole-genome sequencing, allows to detect, confirm and strengthen an association of any certain pathological phenotype with one or another pathogenic variant in a number of genes.Objective: to analyze the results of whole exome sequencing in patients with JME and seek for JME associations.Material and methods. The study included 7 patients with established JME diagnosis and 1 proband child without clinical signs of epilepsy. Whole exome sequencing was carried out by using MiSeq (Illumina, USA), bioinformatics analysis was performed on the Genomenal platform (Novel Software Systems, Russia).Results. Heterozygous carriage of pathogenic variants in the genes of recessive diseases was revealed: SACS, AHI1, CEP164, ANO10, RMND1, POMGNT1, FLG, ACTB. The analysis of the identified genetic variants in the patients examined showed no association with the clinical picture of the disease. Heterozygous missense mutations in CLCN2, EFHC1, JRK, ME2 genes and frameshift mutation in the CACNB4 gene were detected. Conclusion. In recent years, significant efforts were made to identify genes which predispose to JME. During our study, monogenic and/or polygenic pathogenic variants in patients with JME and a child of proband with JME were not identified. The high genetic heterogeneity of JME can explain numerous unsuccessful attempts to find genes predisposing to JME. Further research is necessary to confirm variants associated with potential JME. Advances in genomic technology can expand our understanding of the genetics of this pathology.

Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.

Objective: to assess efficacy and safety of vagus nerve stimulation (VNS) in patients with pharmacoresistant epilepsy.Material and methods. A multi-center retrospective observational program was applied in patients with pharmacoresistant epilepsy by using vagus nerve stimulation for at least 2 years. There were enrolled 151 subjects, patient age on stimulator implantation varied from 5 to 65 years (24.4±13.1 years). Among them, subjects under 18 or at least 18 years of age comprised 58 (38.4%) and 93 (61.6%), respectively. Changes in rate and severity of major group epileptic seizures (highly disabling type) 24 months after VNS-therapy vs. baseline state as well as during 3-, 6-, 9-, 12-month follow-up were compared. There were assessed stimulator-related effects on VNS-therapy as well as patient quality of life 2 years after therapy. The dynamics of the frequency of all types of epileptic seizures was evaluated according to McHugh Outcome scale.Results. Mean epilepsy duration on stimulator implantation was 170.9±126.8 months, with maximum up to 666 months (55 years). Number of patients with dominant (disabling) seizures on implantation procedure comprised 136 (90.1%). Decline in dominant epileptic seizure rate by 50–99% was recorded in 91 patients (66.9%) 24 months after VNStherapy. Among such subjects were 41 patients (30.15%) featured with disabling seizures including 24 fully seizure free subjects (17.65%). Decreased rate of all group epileptic seizures by more than 50% (responders) was found in 52.9% cases, including subjects under 18 and adults in 63.9% and as few as 46.3% (p<0.05), respectively. While assessing dynamic rate for all groups of epileptic seizures applied with VNS-therapy by using McHugh Outcome scale it was found that class I (lowered seizure rate by 80–100%) was observed in 44 cases (29.1%), including 18 patients under 18 (31%) and 26 subjects above 18 (28%) (insignificant difference). Mean dominant group epileptic seizure rate was also significantly decreased in both age groups from 20 down to 5.7 per month. Severity of epileptic seizures and postseizure condition upon VNS-therapy was decreased in 38.6% and 43.9% patients 24 months after therapy and on final follow-up visit, respectively (more than 24 months after implantation). No serious adverse events as well as adverse effects resulting in therapy cancel were noted. Conclusion. Vagus nerve stimulation is an effective and safe auxiliary treatment method for therapy of pharmacoresistant epilepsy both in children and adults.><0.05) , respectively. While assessing dynamic rate for all groups of epileptic seizures applied with VNS-therapy by using McHugh Outcome scale it was found that class I (lowered seizure rate by 80–100%) was observed in 44 cases (29.1%), including 18 patients under 18 (31%) and 26 subjects above 18 (28%) (insignificant difference). Mean dominant group epileptic seizure rate was also significantly decreased in both age groups from 20 down to 5.7 per month. Severity of epileptic seizures and postseizure condition upon VNS-therapy was decreased in 38.6% and 43.9% patients 24 months after therapy and on final follow-up visit, respectively (more than 24 months after implantation). No serious adverse events as well as adverse effects resulting in therapy cancel were noted.Conclusion. Vagus nerve stimulation is an effective and safe auxiliary treatment method for therapy of pharmacoresistant epilepsy both in children and adults.

Objective of the Review: To describe available methods of structural neuroimaging in Parkinson’s disease (PD). Key Points. PD is the second neurodegenerative disease in terms of prevalence; it is a significant medical, social and economic issue. Early diagnosis is the most promising method for the implementation of neuroprotective strategies and preventive therapy in PD. However, differential diagnosis of parkinsonian syndromes is one of the most complicated in neurology. The article describes use of methods of structural neuroimaging in PD diagnostics, in particular of MRI images weighed by magnetic susceptibility, MRI with Т1-weighed images, transcranial sonography. It is demonstrated that these methods can be efficient in patients at an early full-fledged PD stage, where differential diagnosis has to be made or confirmed. Conclusion. Modern methods of structural neuroimaging help not only prevent the causes of secondary parkinsonism, but also confirm PD, also at an early stage of the disease. Keywords: Parkinson’s disease, neuroimaging magnetic-resonance imaging, positron emission tomography, SPECT-imaging, transcranial sonography.

To date, it has been shown that juvenile myoclonic epilepsy (JME) is a common form of genetic (idiopathic) generalized epilepsy. The study of neurophysiological factors that inhibiting and provocating photosensitivity on the electroencephalogram (EEG) in JME expands our understanding of this disease, which is important for diagnosis, treatment and prognosis.The purposeof this review is to analyze neurophysiological techniques that inhibiting and provocating photosensitivity on EEG in patients with JME.Materials and methods. We searched for full-text publications in Russian and English over the past two decades in the databases eLibrary, PubMed, Web of Science, OxfordPress, Springer, Clinicalkeys using keywords: juvenile myoclonic epilepsy (JME), diagnostics, neurophysiology, electroencephalography (EEG), eye opening, photostimulation, eye closure sensitivity, photoparoxysmal response (PPR), epilepsy.Results. Currently, visual triggers such as eye closure, eye closure sensitivity (ECS)/fixation-off sensitivity, other than photosensitivity, are routinely used for EEG in patients with JME, but are rarely scientifically investigated for this pathology. However, it has been shown that ECS is present in 15–25 % of patients with JME. Trigger photostimulation is most effective for detecting photosensitivity in JME compared to intermittent (rhythmic) photostimulation. The frequency of photosensitivity in patients with JME is variable — from 30 % to 54 %. The exact mechanisms of these phenomena are still unknown. It is assumed that ECS and photosensitivity are expressions of hyperexcitability of the occipital cortex in JME.Conclusion. The analyzed neurophysiological and electroclinical studies indicate positive changes in the diagnosis of JME and changes in our understanding of this disease. The mechanism of ECS and photosensitivity in JME is unknown, which is a reason for future research to clarify their consequences, including their impact on the prognosis of the disease and their role in the development of pharmacoresistance. However, despite the characteristic clinical picture and the progress of modern neurophysiological research methods, the question of the role of photosensitivity in this form of epilepsy remains a problem for practicing neurologists, and the proposed EEG protocols need to be modified and more widely implemented in real clinical practice. Variable light and color patterns in broadcast or video game material with a high rate of image change of high-contrast stimulation (more than 3 repetitions per second) can cause seizures in some patients with JME. This requires changing approaches to the neurophysiological diagnosis of photosensitivity in JME and the use of combined triggers for video EEG monitoring.

Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups. Currently, several forms of the disease are established: late infantile (the most common), juvenile (early and late), and adult, which manifests after the age of 16 years. This case report demonstrates an adult MLD in a 24-year-old woman presented with cognitive impairment, including memory deficits, judgement, communication, and self-care skills decline. Magnetic resonance imaging findings revealed massive symmetrical periventricular white matter lesions without signs of brainstem involvement and increased lactate level. Whole exome sequencing revealed two ARSA gene mutations. Clinical and genetic characteristics of the adult MLD and modern treatment approaches are discussed.

Primary headaches are common neurological problem in the world. Migraine (M) and tension type headache (TTH) are the leaders in the structure of primary headaches in the population; (1) Background: The study of the association of single nucleotide variants (SNVs) of MTHFR (meth-ylenetetrahydrofolate reductase) and HTR2C (5-Hydroxytryptamine Receptor 2C) genes with M and TTH development in the European population in Siberia (Russia); (2) Methods: 192 adults were examined: 82 (42.7%) males and 110 (57.3%) females. Control group: 81 healthy adults, median age 49.5 [36; 59] years; 53 (66.7%) males and 27 (33.3%) females. Headache group consisted of 111 patients with primary headache, median age 54 [45; 64] years, including two subgroups: subgroup 1 (M) of 39 patients; subgroup 2 (TTH) of 72 patients. Carriage of alleles and genotypes rs1801133 and rs1801131 of the MTHFR gene and rs6318 of the HTR2C gene was determined using PCR-RT by TaqMan allelic discrimination technology; (3) Results: A statistically significant association of the carriage of the A allele rs1801133 of the MTHFR gene with the formation of M (p = 0.025) and TTH (p = 0.022), as well as the GA genotype with the development of TTH (p = 0.024) was revealed. Carriage of the G allele and the TG and GG genotypes of the MTHFR gene, associated with a decreased activity of the MTHFR enzyme, does not affect the development of primary headache. A statistically significant association was revealed between the carriage of the heterozygous GC genotype (rs6318) of the HTR2C gene and the formation of M (p = 0.013); (4) Conclusions: Carriage of the A allele (OR 1.77; 95% CI 1.09-2.89) and the GA genotype (OR 2.24; 95% CI 1.17-4.29) rs1801133 of the MTHFR gene is a risk factor for the development of TTH (p <0.05). Carriage of the A allele rs1801133 of the MTHFR gene is a risk factor for the development of M (OR 1.97; 95% CI 1.08-3.57; p <0.05). Carriage of the variant G allele and rs1801131 GT and GG genotypes associated with reduced activity of the MTHFR enzyme does not affect the development of primary headache. In the control group, the prevalence of the T allele associated with normal enzymatic activity was noted (p = 0.024). Carriage of the heterozygous genotype CG SNV rs6318 of the HTR2C gene increases the risk of developing migraine by 3.6 times.

Focal cortical dysplasia (FCD) is one of the most common causes in developing pharmacoresistant epilepsy. We present the clinical case of the patient with generalized seizures. Routine electroencephalography (EEG) data registered diffuse epileptiform activity that allowed to diagnose genetic eneralized epilepsy and pharmacoresistant course of seizures.After performing magnetic resonance imaging using the epileptological program and video-EEG-monitoring, the diagnosis was revised: structural focal epilepsy with seizures with focal onset with oroalimentary, gesture automatisms in the right hand, bilateral tonic-clonic, uncompensated by levetiracetam monotherapy (1500 mg/day). Background disease: congenital malformation of the brain: FCD in the basal parts of the left temporal lobe. Lacosamide was added to the therapy in the drug dose 300 mg/day, and the frequency of epileptic seizures decreased. Differential diagnosis between genetic generalized epilepsy and structural epilepsy with FCD usually poses no obstacles. However, in some cases, structural epilepsy occurs under the “mask” of generalized epilepsy. Hence, this clinical case demonstrates the importance of diagnostic measures in the differential diagnostics of various forms of epilepsy to determine further tactics of patient management.